The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation.
Lindstrand A, Lagerstedt-Robinson K, Jemt A, Kvarnung M, Ygberg S, Vonlanthen S, Oscarson M, Nilsson D, Lesko N, Mantero AS, Anderlid BM, Arnell H, Arthur C, Bajalica-Lagercrantz S, Barbaro M, Bergman P, Björck E, Picard OB, Bruhn H, Carlsten J, Correia SP, De Geer K, Delgado Vega AM, Ehn E, Eisfeldt J, Ek M, Elvers I, Engvall M, Freyer C, Frisk S, Graff C, Grigelioniené G, Gustafsson P, Hammarsjö A, Helgadottir HT, Hellström Pigg M, Henry OJ, Hägglund M, Iwarsson E, Janvid V, Soller MJ, Sundin L, Kuchinskaya E, Kämpe A, Leinfelt A, Liedén A, Lindelöf H, Lyander A, Malmgren H, Mannila M, Marits P, Naess K, Neethiraj R, Nyren K, Pappas C, Paucar M, Pekkola Pacheco N, Peña Perez L, Pettersson M, Pruisscher P, Rasi C, Renevey A, Rössner S, Sahlin E, Stenund E, Stödberg T, Sundin M, Svärd K, Tesi B, Tham E, Thonberg H, Töhönen V, Ueberschär M, Wallander K, Westenius E, Winberg J, Winblad N, Wincent J, Winerdal M, Wredenberg A, Zetterlund A, Zetterström RH, Öfverholm I, Nordgren A, Stranneheim H, Wirta V, Wedell A.
Lindstrand A, et al. Among authors: zetterstrom rh.
Genome Med. 2026 Mar 30;18(1):30. doi: 10.1186/s13073-026-01611-3.
Genome Med. 2026.
PMID: 41913253
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